...UPDATED: 12:13 GMT, 7 March 2011 Doctors have developed a blood test to check unborn babies for Down’s syndrome. The approach could save pregnant women from having the invasive examinations currently available, which raise the risk of miscarriage. Current blood tests can only tell if a baby is at risk of Down's Syndrome. Scientists from Cyprus, Greece and Britain said the new technique correctly identified 14 Down syndrome cases and 26 normal foetuses in a blind test. They believe it will also be possible to diagnose the condition earlier on. Study author Philippos Patsalis, of the Cyprus Institute of Neurology and Genetics, said: 'The method is simple and fast and easy to perform in every genetic diagnostic lab worldwide because it does not require expensive equipment, software or special infrastructure. 'The test is the first worldwide to demonstrate 100 per cent sensitivity and 100 per cent specificity in all normal and Down's syndrome pregnancies examined.' Down's syndrome is a genetic disorder that causes physical and learning disabilities and raises the risk of heart disease. Infants with the condition have three copies of the Chromosome 21 instead of the normal two. It affects about one in every 700 live births but women of 40 are 16 times more likely to have a Down's child than a 25-year-old. At present all pregnant women are offered screening to see if their baby is at risk of Down's syndrome. For a firm diagnosis, doctors must take a sample of amniotic fluid or...
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...completely understand how the love of a mother and father can be given to a child with such a disability, the individual needs to gain an understanding of what Down syndrome is. The reader of this paper will learn how Down syndrome got the name, what Down syndrome is, the case for this disorder, the facts that are known of Down syndrome. The methods used to test and find DS before the birth of a child. Statistical facts, the medical conditions which are present, how parents and teachers work with those born with DS. How the eating habits, sexuality habits of males and females with Down syndrome are viewed. The length of the life expectancy for someone who is challenged with DS compared to someone that is not mentally challenged. The last thing that I will cover within this paper is that of foundations that have been created to conduct research and treatment for those with Down syndrome and to answer the question that many may have as to there being a cure for Down syndrome. Down syndrome a term that many are familiar with in the United States; the scientific name for DS is usually known for the extra chromosome passed on to the child from the mother or father. Down syndrome may be called trisomy 21 or trisomy G. According to Leshin Down Syndrome originally was discovered “in 1866, when a physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other children...
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...spend in gynecology vary widely and can range from community clinics to gynecologic surgery. This clerkship is highly dependent on how much effort you put into it, as evaluations from residents and faculty make up a significant portion of your grade. The clerkship is generally VERY organized, which you will learn to appreciate as you go through other clerkships. Didactics: There are lectures one day per week, which are mandatory. You will be excused from all clinical duties on your didactic day. Apart from the lectures, you will have quizzes over certain topics in Ob-Gyn (refer to syllabus for schedule). The course textbook (Beckman) is an excellent study guide for these quizzes, but make sure you have the latest edition! Other helpful study resources are the online APGO quizzes, Blue Prints, First Aid and Case Files. You are allowed to wear casual clothes on didactic days. Small Groups: The small group sessions are where you will present your H&P and discuss your patient and treatment options. You will typically present a patient and learning issue in a Powerpoint presentation, but this varies with faculty. This is a good chance to impress a faculty member if you are looking for letters of recommendation. Otherwise, if is a good chance to improve your presentation...
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...THE REPORT DOWN SYNDROME ( TRISOMY 21 ) Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 (which is why the disorder is also called "trisomy 21"). Having an extra copy of this chromosome means that each gene may be producing more protein product than normal. Cells seem to tolerate this better than having not enough protein, or having altered protein due to a mutation in the DNA sequence. However, producing too much protein can also have serious consequences, as seen in Down syndrome. Genes on chromosome 21 that specifically contribute to the various symptoms of Down syndrome are now being identified. Down syndrome is typically caused by what is called nondisjunction. If a pair of number 21 chromosomes fails to separate during the formation of an egg (or sperm), this is referred to as nondisjunction. When that egg unites with a normal sperm to form an embryo, that embryo ends up with three copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby's body. Interestingly, nondisjunction events seem to occur more frequently in older women. This may explain why the risk of having a baby with Down syndrome is greater among mothers age 35 and older. In rare cases Down syndrome is caused by a Robertsonian translocation, which occurs when the long arm of chromosome 21 breaks off and attaches to another chromosome at the centromere. The carrier of such a translocation will...
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...Tay-Sachs Disease Foreword: Before beginning to read this review of the case study, please note that current events of today pertain more to preconception screening for genetic anomalies and genetic studies. Today due to preconception genetic screening many parents opt to terminate a fetus with fatal or painful anomalies; therefore a large portion of the research for parents who are expecting a child with Tay Sachs Disease was noted to be during an approximate 30 year span from the mid-1950’s to the early-mid 1980’s, thus older citings will be noted. “Tay-Sachs parents say that their child dies three times—when the disease is diagnosed, when the child enters the hospital, and the final time.” (Atwater, 1964) “How do you parent without a net, without a future, knowing that you will lose your child, bit by torturous bit?” (Rapp, 2011) Will it be a boy or a girl? What color will the eyes, the hair be? Whose smile will the baby have? These are just a few of the many questions that begin when parents find out they have conceived a child, and most of the time the questions only grow as the pregnancy progresses too; what will they want to be when they grow up? Who will they look like? Will they be strong, graceful, independent, or determined? Should we look at preschools and colleges now? It may not seem to occur very often that parents will say to themselves; we never thought about how we might parent a child without a future. Now instead of questions that may focus on the...
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...Acquisitions Editor: Crystal Taylor Product Managers: Kelley A. Squazzo & Catherine A. Noonan Designer: Doug Smock Compositor: SPi Technologies First Edition © 2011 Lippincott Williams & Wilkins, a Wolters Kluwer business. 351 West Camden Street Baltimore, MD 21201 Printed in China All rights reserved. This book is protected by copyright. No part of this book may be reproduced or transmitted in any form or by any means, including as photocopies or scanned-in or other electronic copies, or utilized by any information storage and retrieval system without written permission from the copyright owner, except for brief quotations embodied in critical articles and reviews. Materials appearing in this book prepared by individuals as part of their official duties as U.S. government employees are not covered by the abovementioned copyright. To request permission, please contact Lippincott Williams & Wilkins at Two Commerce Square, 2001 Market street, Philadelphia, PA 19103 USA, via email at permissions@lww.com, or via website at lww.com (products and services). Library of Congress Cataloging-in-Publication Data Lambert, Harold Wayne, 1972– Lippincott’s illustrated Q&A review of anatomy and embryology / H. Wayne Lambert, Lawrence E. Wineski ; with special contributions from Jeffery P. Hogg, Pat Abramson, Bruce Palmer. — 1st ed. p. ; cm. Includes index. ISBN 978-1-60547-315-4 1. Human anatomy—Examinations, questions, etc. I. Wineski, Lawrence E. II. Title. [DNLM: 1. Anatomy—Examination Questions...
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